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Article

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

American journal of medical genetics. Part A - 1 Jun 2015

Mattos Eduardo P, Silva André Anjos da, Magalhães José Antônio A, Leite Júlio César L, Leistner-Segal Sandra, Gus-Kessler Rejane, Perez Juliano Adams, Vedolin Leonardo M, Torreblanca-Zanca Albertina, Lapunzina Pablo, Ruiz-Perez Victor L, Sanseverino Maria Teresa V

Abstract excerpt

In some cases Neu-Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutat...

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Identifiers

PMID: 25913727
DOI: 10.1002/ajmg.a.36930

Genes

PHGDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25913727-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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